Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Ncf1'

670701

Institutional Source

Beutler Lab

Gene Symbol

Ncf1

Ensembl Gene

ENSMUSG00000015950

Gene Name

neutrophil cytosolic factor 1

Synonyms

p47, Ncf-1, p47phox, NADPH oxidase subunit (47kDa), NOXO2

MMRRC Submission

068633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 134254145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 209 (Y209*)

Ref Sequence

ENSEMBL: ENSMUSP00000016094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000123941] [ENSMUST00000144086] [ENSMUST00000146354]

AlphaFold

Q09014

Predicted Effect

probably null
Transcript: ENSMUST00000016094
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: Y209*

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	403	1.3e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111275
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: Y209*

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123941

Predicted Effect

probably null
Transcript: ENSMUST00000144086
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: Y209*

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
low complexity region	336	344	N/A	INTRINSIC
low complexity region	349	367	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000146354
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: Y209*

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,225,053 (GRCm39)	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,038,489 (GRCm39)	R271*	probably null	Het
Adamts20	A	T	15: 94,184,294 (GRCm39)	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,206,417 (GRCm39)	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,546,230 (GRCm39)	I556V	possibly damaging	Het
Alox12	C	A	11: 70,144,146 (GRCm39)	A116S	probably benign	Het
Alox5	G	T	6: 116,390,102 (GRCm39)	A552E	probably damaging	Het
Angpt1	G	T	15: 42,375,780 (GRCm39)	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,629,485 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,462,305 (GRCm39)	L726I	probably damaging	Het
Ccdc78	A	T	17: 26,006,807 (GRCm39)	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,824,791 (GRCm39)	D1323G	probably damaging	Het
Chek1	A	T	9: 36,625,033 (GRCm39)	C349*	probably null	Het
Clec1a	A	T	6: 129,428,617 (GRCm39)	L21Q	possibly damaging	Het
Col1a1	T	C	11: 94,833,634 (GRCm39)	V445A	possibly damaging	Het
Efcab7	A	G	4: 99,757,791 (GRCm39)	T313A	probably null	Het
Fads1	T	A	19: 10,170,325 (GRCm39)	Y288*	probably null	Het
Fgb	T	A	3: 82,953,969 (GRCm39)	T90S	probably benign	Het
Glg1	C	A	8: 111,888,114 (GRCm39)	V1026L	probably damaging	Het
Hadh	T	A	3: 131,027,825 (GRCm39)	Y313F	probably damaging	Het
Htr4	A	G	18: 62,570,853 (GRCm39)	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,552,757 (GRCm39)	D487G	possibly damaging	Het
L1td1	G	A	4: 98,625,814 (GRCm39)	V604I	probably benign	Het
Lao1	A	G	4: 118,825,565 (GRCm39)	T462A	probably damaging	Het
Lefty1	C	A	1: 180,764,118 (GRCm39)	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,529,522 (GRCm39)	Y79C		Het
Lrp2	A	G	2: 69,382,745 (GRCm39)	C47R	probably damaging	Het
Mrc2	A	T	11: 105,238,465 (GRCm39)	N1204I	probably benign	Het
Or14j7	T	A	17: 38,235,075 (GRCm39)	M206K	probably benign	Het
Or2ad1	A	T	13: 21,326,453 (GRCm39)	M258K	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Oxtr	T	G	6: 112,466,871 (GRCm39)		probably benign	Het
Pcdhac1	T	C	18: 37,224,942 (GRCm39)	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,097,019 (GRCm39)	L755R	probably damaging	Het
Pkhd1	A	G	1: 20,358,461 (GRCm39)	V2705A	probably damaging	Het
Plch2	C	A	4: 155,070,875 (GRCm39)	G1168V	probably benign	Het
Prpf39	T	C	12: 65,089,555 (GRCm39)	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf10	T	A	7: 112,554,738 (GRCm39)	D446E	probably benign	Het
Rgs13	T	C	1: 144,016,482 (GRCm39)	Y87C	probably damaging	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Smpd3	G	A	8: 106,982,377 (GRCm39)	R576C	probably damaging	Het
Spata31e1	T	C	13: 49,938,704 (GRCm39)	Y1002C	probably damaging	Het
Srsf11	A	T	3: 157,718,037 (GRCm39)	D382E	unknown	Het
Stpg1	T	A	4: 135,261,108 (GRCm39)	M306K	probably benign	Het
Svil	C	T	18: 5,059,332 (GRCm39)	Q696*	probably null	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Synj2	T	C	17: 6,036,514 (GRCm39)	F161S	possibly damaging	Het
Tek	T	C	4: 94,738,037 (GRCm39)	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555 (GRCm39)	D386V	possibly damaging	Het
Tgm4	G	T	9: 122,890,910 (GRCm39)	G503V	probably damaging	Het
Tnni3k	T	C	3: 154,645,691 (GRCm39)	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,561,931 (GRCm39)	H232Q	probably benign	Het
Ubqln5	T	C	7: 103,778,329 (GRCm39)	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,932,958 (GRCm39)	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,213,894 (GRCm39)	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,818,250 (GRCm39)	G801V	probably damaging	Het
Vps39	A	G	2: 120,172,506 (GRCm39)	S176P	probably damaging	Het
Vsig10	C	A	5: 117,472,981 (GRCm39)	H191Q	probably benign	Het
Wtap	G	A	17: 13,186,488 (GRCm39)	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,816,953 (GRCm39)	R248S	probably benign	Het
Zscan10	A	G	17: 23,829,011 (GRCm39)	S518G	probably benign	Het
Zscan29	A	T	2: 120,996,876 (GRCm39)	Y282N	probably damaging	Het

Other mutations in Ncf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Ncf1	APN	5	134,255,447 (GRCm39)	missense	probably benign	0.03
IGL02718:Ncf1	APN	5	134,256,302 (GRCm39)	critical splice donor site	probably null
R0143:Ncf1	UTSW	5	134,255,991 (GRCm39)	splice site	probably benign
R0313:Ncf1	UTSW	5	134,258,421 (GRCm39)	start codon destroyed	probably null	1.00
R0413:Ncf1	UTSW	5	134,251,656 (GRCm39)	splice site	probably benign
R2037:Ncf1	UTSW	5	134,258,406 (GRCm39)	missense	probably damaging	1.00
R2042:Ncf1	UTSW	5	134,255,494 (GRCm39)	missense	probably benign	0.00
R2511:Ncf1	UTSW	5	134,254,552 (GRCm39)	missense	probably damaging	0.99
R3545:Ncf1	UTSW	5	134,255,463 (GRCm39)	nonsense	probably null
R3547:Ncf1	UTSW	5	134,255,463 (GRCm39)	nonsense	probably null
R3548:Ncf1	UTSW	5	134,255,463 (GRCm39)	nonsense	probably null
R4751:Ncf1	UTSW	5	134,258,399 (GRCm39)	missense	probably damaging	1.00
R4989:Ncf1	UTSW	5	134,252,267 (GRCm39)	missense	probably damaging	0.98
R5288:Ncf1	UTSW	5	134,250,659 (GRCm39)	missense	probably damaging	1.00
R5384:Ncf1	UTSW	5	134,250,659 (GRCm39)	missense	probably damaging	1.00
R5385:Ncf1	UTSW	5	134,250,659 (GRCm39)	missense	probably damaging	1.00
R5590:Ncf1	UTSW	5	134,252,355 (GRCm39)	missense	probably damaging	0.98
R6059:Ncf1	UTSW	5	134,252,341 (GRCm39)	missense	probably damaging	1.00
R6136:Ncf1	UTSW	5	134,255,487 (GRCm39)	missense	probably damaging	1.00
R7023:Ncf1	UTSW	5	134,254,116 (GRCm39)	missense	possibly damaging	0.48
R7310:Ncf1	UTSW	5	134,250,615 (GRCm39)	missense	probably benign	0.04
R7618:Ncf1	UTSW	5	134,256,121 (GRCm39)	missense	probably benign	0.08
R7838:Ncf1	UTSW	5	134,250,949 (GRCm39)	missense	possibly damaging	0.55
R9227:Ncf1	UTSW	5	134,250,718 (GRCm39)	missense	probably benign	0.00
R9230:Ncf1	UTSW	5	134,250,718 (GRCm39)	missense	probably benign	0.00
R9276:Ncf1	UTSW	5	134,250,693 (GRCm39)	nonsense	probably null
R9733:Ncf1	UTSW	5	134,250,899 (GRCm39)	missense	probably benign
R9778:Ncf1	UTSW	5	134,258,444 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CACATTGCTCACATGGTCCTG -3'
(R):5'- CAAAGTCCTCTGAGCTCGTG -3'

Sequencing Primer
(F):5'- TCACATGGTCCTGGCTGC -3'
(R):5'- CTCAGGGGTGGGATCTGAG -3'

Posted On

2021-04-30